V117M (p.Val117Met) variant of PPARGC1A (Q9UBK2)
V117M (p.Val117Met) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V117M (p.Val117Met) variant details
- p.Val117Met
- rs754009449
- NCI-TCGA Cosmic COSV5352
- cosmic curated COSV53524
- ExAC rs754009449
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.32
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available